rs1060499939
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs1060499939(C;C) |
Make rs1060499939(C;G) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 2 |
Position | 32137172 |
Gene | SPAST |
is a | snp |
is | mentioned by |
dbSNP | rs1060499939 |
dbSNP (classic) | rs1060499939 |
ClinGen | rs1060499939 |
ebi | rs1060499939 |
HLI | rs1060499939 |
Exac | rs1060499939 |
Gnomad | rs1060499939 |
Varsome | rs1060499939 |
LitVar | rs1060499939 |
Map | rs1060499939 |
PheGenI | rs1060499939 |
Biobank | rs1060499939 |
1000 genomes | rs1060499939 |
hgdp | rs1060499939 |
ensembl | rs1060499939 |
geneview | rs1060499939 |
scholar | rs1060499939 |
rs1060499939 | |
pharmgkb | rs1060499939 |
gwascentral | rs1060499939 |
openSNP | rs1060499939 |
23andMe | rs1060499939 |
SNPshot | rs1060499939 |
SNPdbe | rs1060499939 |
MSV3d | rs1060499939 |
GWAS Ctlg | rs1060499939 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs1060499939(C;C) rs1060499939(T;T) |
Alt | rs1060499939(C;C) rs1060499939(T;T) |
Reference | Rs1060499939(G;G) |
Significance | Probable-Pathogenic |
Disease | Spastic paraplegia 4 |
Variation | info |
Gene | SPAST |
CLNDBN | Spastic paraplegia 4, autosomal dominant |
Reversed | 0 |
HGVS | NC_000002.11:g.32362241G>C; NC_000002.11:g.32362241G>T |
CLNSRC | |
CLNACC | RCV000476656.1, RCV000468399.1, |